LOCUS       NM_198488               5632 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens family with sequence similarity 83 member H (FAM83H),
            mRNA.
ACCESSION   NM_198488 XM_209892
VERSION     NM_198488.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5632)
  AUTHORS   Tan,L., Guo,Y., Zhong,M.M., Zhao,Y.Q., Zhao,J., Aimee,D.M.,
            Feng,Y., Ye,Q., Hu,J., Ou-Yang,Z.Y., Chen,N.X., Su,X.L., Zhang,Q.,
            Liu,Q., Yuan,H., Wang,M.Y., Feng,Y.Z. and Zhang,F.Y.
  TITLE     Tooth ultrastructure changes induced by a nonsense mutation in the
            FAM83H gene: insights into the diversity of amelogenesis imperfecta
  JOURNAL   Clin Oral Investig 27 (10), 6111-6123 (2023)
   PUBMED   37615776
  REMARK    GeneRIF: Tooth ultrastructure changes induced by a nonsense
            mutation in the FAM83H gene: insights into the diversity of
            amelogenesis imperfecta.
REFERENCE   2  (bases 1 to 5632)
  AUTHORS   Mao,S.Y. and Duan,X.H.
  TITLE     [Analysis of amelogenesis imperfecta with abnormal tooth eruption
            caused by FAM83H mutation]
  JOURNAL   Zhonghua Kou Qiang Yi Xue Za Zhi 58 (9), 933-937 (2023)
   PUBMED   37659852
  REMARK    GeneRIF: [Analysis of amelogenesis imperfecta with abnormal tooth
            eruption caused by FAM83H mutation].
REFERENCE   3  (bases 1 to 5632)
  AUTHORS   Xie,Y., Meng,M., Cao,L., Yang,J., Ma,Q., Huang,X., Yu,Y., Yang,Q.,
            Zou,J. and Du,Q.
  TITLE     Amelogenesis imperfecta in a Chinese family resulting from a FAM83H
            variation and the effect of FAM83H on the secretion of enamel
            matrix proteins
  JOURNAL   Clin Oral Investig 27 (3), 1289-1299 (2023)
   PUBMED   36318336
  REMARK    GeneRIF: Amelogenesis imperfecta in a Chinese family resulting from
            a FAM83H variation and the effect of FAM83H on the secretion of
            enamel matrix proteins.
REFERENCE   4  (bases 1 to 5632)
  AUTHORS   Zhou,M., Pan,S., Qin,T., Zhao,C., Yin,T., Gao,Y., Liu,Y., Zhang,Z.,
            Shi,Y., Bai,Y., Gong,J., Guo,X., Wang,M. and Qin,R.
  TITLE     LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic
            ductal adenocarcinoma by stabilizing FAM83H mRNA to protect
            beta-catenin from degradation
  JOURNAL   J Exp Clin Cancer Res 41 (1), 288 (2022)
   PUBMED   36171592
  REMARK    GeneRIF: LncRNA FAM83H-AS1 promotes the malignant progression of
            pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to
            protect beta-catenin from degradation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5632)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   6  (bases 1 to 5632)
  AUTHORS   Wright,J.T., Frazier-Bowers,S., Simmons,D., Alexander,K.,
            Crawford,P., Han,S.T., Hart,P.S. and Hart,T.C.
  TITLE     Phenotypic variation in FAM83H-associated amelogenesis imperfecta
  JOURNAL   J Dent Res 88 (4), 356-360 (2009)
   PUBMED   19407157
  REMARK    GeneRIF: Affected individuals having truncating FAMH3H mutations of
            677 or fewer amino acids presented a generalized autosomal-dominant
            hypocalcified amelogenesis imperfecta phenotype. A unique and
            previously unreported phenotype is also described.
REFERENCE   7  (bases 1 to 5632)
  AUTHORS   Hart,P.S., Becerik,S., Cogulu,D., Emingil,G., Ozdemir-Ozenen,D.,
            Han,S.T., Sulima,P.P., Firatli,E. and Hart,T.C.
  TITLE     Novel FAM83H mutations in Turkish families with autosomal dominant
            hypocalcified amelogenesis imperfecta
  JOURNAL   Clin Genet 75 (4), 401-404 (2009)
   PUBMED   19220331
  REMARK    GeneRIF: identified FAM83H nonsense mutations in all eight families
            with autosomal dominant hypocalcified amelogenesis imperfecta
REFERENCE   8  (bases 1 to 5632)
  AUTHORS   Lee,S.K., Hu,J.C., Bartlett,J.D., Lee,K.E., Lin,B.P., Simmer,J.P.
            and Kim,J.W.
  TITLE     Mutational spectrum of FAM83H: the C-terminal portion is required
            for tooth enamel calcification
  JOURNAL   Hum Mutat 29 (8), E95-E99 (2008)
   PUBMED   18484629
  REMARK    GeneRIF: the C-terminal portion of FAM83H is required for tooth
            enamel calcification
REFERENCE   9  (bases 1 to 5632)
  AUTHORS   Kim,J.W., Lee,S.K., Lee,Z.H., Park,J.C., Lee,K.E., Lee,M.H.,
            Park,J.T., Seo,B.M., Hu,J.C. and Simmer,J.P.
  TITLE     FAM83H mutations in families with autosomal-dominant hypocalcified
            amelogenesis imperfecta
  JOURNAL   Am J Hum Genet 82 (2), 489-494 (2008)
   PUBMED   18252228
  REMARK    GeneRIF: FAM83H mutations in families with autosomal-dominant
            hypocalcified amelogenesis imperfecta demonstrate that FAM83H is
            required for proper dental-enamel calcification.
REFERENCE   10 (bases 1 to 5632)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105219.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_198488.4.
            
            Summary: The protein encoded by this gene plays an important role
            in the structural development and calcification of tooth enamel.
            Defects in this gene are a cause of amelogenesis imperfecta type 3
            (AI3). [provided by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR9304717.596481.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388913.4/ ENSP00000373565.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AC105219.6         95016-95104
            90-551              AC105219.6         98198-98659
            552-716             AC105219.6         99472-99636
            717-841             AC105219.6         99704-99828
            842-5632            AC105219.6         100072-104862
FEATURES             Location/Qualifiers
     source          1..5632
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..5632
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /note="family with sequence similarity 83 member H"
                     /db_xref="GeneID:286077"
                     /db_xref="HGNC:HGNC:24797"
                     /db_xref="MIM:611927"
     exon            1..89
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /inference="alignment:Splign:2.1.0"
     exon            90..551
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..3644
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /codon_start=1
                     /product="protein FAM83H"
                     /protein_id="NP_940890.4"
                     /db_xref="CCDS:CCDS6410.2"
                     /db_xref="GeneID:286077"
                     /db_xref="HGNC:HGNC:24797"
                     /db_xref="MIM:611927"
                     /translation="MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYS
                     RFLATEGAPDFLCPEELEHVSRHLRPPQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQ
                     AVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTD
                     VDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYC
                     RTGKSFKGHVKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRI
                     LFAQSEPLVPSAAALARMDAYALAPYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPR
                     EEGLGFPSFLDPDRHFLSAFRREEPPRMPGGALEPHAGLRPLSRRLEAEAGPAGELAG
                     ARGFFQARHLEMDAFKRHSFATEGAGAVENFAAARQVSRQTFLSHGDDFRFQTSHFHR
                     DQLYQQQYQWDPQLTPARPQGLFEKLRGGRAGFADPDDFTLGAGPRFPELGPDGHQRL
                     DYVPSSASREVRHGSDPAFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDPAPEAEP
                     ERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGLPAPMEAEAYEDDVLAPGGRAPAGD
                     LLPSAFRVPAAFPTKVPVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPLVQRSSRL
                     RSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLGPGGEAVRSAASTKVAELLEK
                     YKGPARDPGGGAGAITVASHSKAVVSQAWREEVAAPGAVGGERRSLESCLLDLRDSFA
                     QQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQSHSTSPQGLDSPLPLEG
                     SGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQKGSPTSAYPERRGS
                     PVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPMEVLRKGSLRLRQL
                     LSPKGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANA
                     LYSSNLRDDTKAILEQISAHGQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKD
                     KCSAIFRSDSLGTQGRLSRTLPASAEERDRLLRRMESMRKEKRVYSRFEVFCKKEEAS
                     SPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK"
     exon            552..716
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /inference="alignment:Splign:2.1.0"
     exon            717..841
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /inference="alignment:Splign:2.1.0"
     exon            842..5632
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5610..5615
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /note="hexamer: AATAAA"
     polyA_site      5632
                     /gene="FAM83H"
                     /gene_synonym="AI3; AI3A"
                     /note="major polyA site"
ORIGIN      
        1 agtggctgcc ggaccgaccg gaccgcgagg ccgctgggcg gcggtcggct cctgctgccc
       61 ctgtgccgag accccgcgca cctggccagg cccctggccc caacatggcc cgtcgctctc
      121 agagctcctc gcagggggac aacccactgg cacccgggta cctgccgcct cactacaaag
      181 agtactaccg cctggcggtg gatgcactgg ccgagggtgg ctcggaggcc tacagccgct
      241 tcctcgctac cgagggggca ccagacttcc tgtgccctga agagctggaa catgtgagcc
      301 gacaccttcg gcctccgcag tatgttaccc gagagccacc tgaaggcagc cttctcgacg
      361 tggacatgga tggctcctcg ggtacatact ggccagtgaa ctcagaccag gccgtgcctg
      421 agcttgattt gggctggcct ctgaccttcg gcttccaggg caccgaggtg accaccttgg
      481 tgcagccacc gccccccgac agccccagta tcaaggatga ggcccgcagg atgatccgtt
      541 ccgcccagca ggtggtggcc gtggtgatgg acatgttcac tgatgtggac ctgctcagcg
      601 aagtgctgga ggccgcggcc cgtcgggtcc cagtctacat cctgctggat gagatgaacg
      661 cgcagcactt cctggacatg gccgacaagt gccgtgtcaa cctgcagcac gtggatttcc
      721 tgcgcgtacg gactgtggcg ggccccacct actactgccg cactgggaag tccttcaagg
      781 gccacgtcaa ggagaagttc ctgctggtgg actgtgccgt ggtgatgagt gggagctaca
      841 gcttcatgtg gtcctttgag aagatccacc gcagcctggc gcacgtgttc caaggagagc
      901 tggtctccag cttcgacgag gagttccgca tcctcttcgc gcagtccgag ccgcttgtgc
      961 cctcggccgc ggccctggcc cgcatggacg cctatgccct ggctccgtat gccggggccg
     1021 ggcctctcgt gggcgtccct ggggtcgggg cgccaacccc cttctccttc cctaaacgag
     1081 cgcacctcct gttcccgcca ccccgggaag agggcctggg cttcccctcc ttcctcgacc
     1141 cggaccgcca cttcctgtcg gccttccgcc gggaggagcc gccgcggatg ccggggggcg
     1201 cgctggaacc gcacgcgggg ctgcggccgc tctcgcggcg cctggaggcc gaggccgggc
     1261 cggctgggga gctcgcgggc gcgcggggct tcttccaggc gcggcacctg gagatggacg
     1321 ccttcaagcg gcacagcttc gcgaccgagg gcgcgggcgc cgtggagaac ttcgcggccg
     1381 cgcggcaggt gtcgcggcag acgttcctca gccacggcga cgacttccgc ttccagacca
     1441 gccacttcca ccgtgaccag ctctaccagc agcagtacca gtgggacccg cagctcacgc
     1501 cggcgcgccc gcaaggcctg ttcgagaagc ttcgcggggg ccgcgcgggt ttcgcggacc
     1561 cggatgactt caccctgggc gccgggcccc gcttcccgga gctcggaccc gacgggcacc
     1621 agcggctgga ctacgtgccg tccagcgcgt cccgcgaggt gcgccacggc tcggaccccg
     1681 ccttcgcgcc cggaccccgc ggcctggagc ccagcggagc cccgcgcccc aacctgaccc
     1741 agcgcttccc atgccaggcc gcggcgaggc cgggcccaga ccccgctccc gaggcggagc
     1801 cggagcgcag gggcgggccc gaggggcggg cagggctgcg gcgctggcgt ttggcctcct
     1861 acttgagcgg ctgccacggc gaggatgggg gcgacgacgg cctaccggcg cccatggaag
     1921 cggaggctta cgaagacgac gtgctggctc ccgggggccg ggcacctgcc ggcgacctgc
     1981 tcccctcggc cttccgcgtc ccagcagcct tccccaccaa ggtcccggtg ccaggcccgg
     2041 gcagcggcgg caacggccca gagcgcgagg gcccggagga gcctggcctg gccaagcagg
     2101 actcattccg ctcgcgcctg aaccccctgg tccagcgcag ctccaggctg cgctcctcgc
     2161 tcatcttcag cacgtcacag gccgagggcg cggccggggc tgcggcggcc actgagaagg
     2221 tgcagctgct gcacaaggag cagacggtca gcgagacgct ggggcccggc ggagaggccg
     2281 tgcgctccgc ggcttccacc aaggtggcgg agctgctgga gaagtacaag ggcccagccc
     2341 gtgatcccgg cggcggcgcg ggcgccatca ccgttgccag ccacagcaag gccgtcgtgt
     2401 cccaggcgtg gcgggaagag gtggcggccc caggtgccgt ggggggcgag cgccgcagcc
     2461 tcgagagctg cctgctggac ctgcgcgact cctttgcaca gcagctgcac caggaggcgg
     2521 agcggcagcc gggagccgcg tcgctcaccg cggcgcagct gctcgacaca ctgggccgga
     2581 gcggctccga ccgcctgcct tcccgcttcc tctctgccca gagccactca acgtccccgc
     2641 aagggctgga cagccctctg ccgctggaag ggtccggagc gcaccaggtg ctccataatg
     2701 agtcaaaagg gagccccacc tcggcttacc ctgagcggaa ggggagcccc acgcctgggt
     2761 tttccactcg aagaggaagt ccaactacag gatttatcga gcagaagggg agccccacct
     2821 cagcctaccc cgagcgcagg ggtagtccgg tgccccccgt gccggagcgc aggagcagtc
     2881 cggtgccccc cgtgccggag cgcaggggca gcctcaccct taccatctcc ggggagtccc
     2941 cgaaggccgg gcccgcggag gaggggccga gcggccccat ggaagtcctg cgcaaaggct
     3001 ccttgcgtct taggcagctg ctgagcccca agggcgagcg gcgcatggag gatgagggtg
     3061 gcttcccagt gccgcaggag aacggccaac ccgagagccc gcggcgtctg tcactgggcc
     3121 agggtgacag cacggaggct gccacagaag agcggggtcc gcgggcgcgc ctgtcctcag
     3181 ccacggccaa cgccttgtac agcagcaacc ttcgggatga cacgaaggcc attctggagc
     3241 agatcagtgc ccacggccag aagcaccgtg cggtccctgc cccgagcccc ggcccgaccc
     3301 acaacagccc cgagctaggc cgtccaccgg ctgctggcgt cctggcccca gatatgtccg
     3361 acaaggacaa gtgttcagcc atcttccgct cggacagctt ggggacccag ggccggctga
     3421 gccgcacgct gccagccagc gcggaggagc gcgatcggct gctgcgccgc atggagagca
     3481 tgcgcaagga gaagcgcgtg tacagccgct tcgaggtctt ctgcaagaaa gaggaggcca
     3541 gcagccctgg ggcaggggaa ggccccgcgg aggagggcac cagggacagc aaggtgggca
     3601 agttcgtgcc caagatcctg ggcacgttca aaagcaagaa gtgagtcttc tggcctggca
     3661 acccaggcca gggtgcccgc atcgctgccc cggtcatcca gaagccccgc ggaacagaga
     3721 gccctgctca tctgcttgag cagcggctgt caggccacgg ccgcttgggg cttggctgag
     3781 tgcgccagac ctcggctcca ctggaggctc acctggcagc tgccgtctct gccccctggc
     3841 ctccccaacg ctggggctgc acccctcgcc accagtgcct ttctcccctc agcaccttca
     3901 tctctgcacc gtcagccttg cgtggcgcag cgtctggctc cgccatctct ttgtgcctca
     3961 gtcccccccg ccccctttat ttttttgaga cctagggctg gagtgcagtt gagcggtctg
     4021 ggctcactgc aacctctgcc tcccgggttc cagcgattct cctgcctcag cctcctgagt
     4081 agctgggatt acagatgtat gctaccacgc ccaggtagtt tttgtatttt tagtagagac
     4141 agggtttcac tatgttggcc aggctggtct ccaactcctg gcctcaaatg atcagcccgc
     4201 ttcagcctcc caaagtgggg ggattacagg cgtgagcctt gcaccccgct aagtccccta
     4261 tcctcttgca agggtctcgc ctctgtgcct caattcctca ttctctgggc ccttctcctc
     4321 ctcagggcct cctgttctca gggcctcccc cctccccgct ccctccctct ctcaaggtct
     4381 cctccttccc tccccccccc ccccccccgt ctcccccctc ccccgcctgg gcttcacttc
     4441 ctttcctact tggattctcc tgctcgctgc ctcccagcat cttttttgga ggcccgtctc
     4501 ttgctgtggg gaagactggg ctggctgcgg gcagtttgca aggggtgggt ggggcagggg
     4561 ggggggagct ggaccagaag atgccccttg gagtggcaag gaagctggac agggcaggcc
     4621 tctggggacg ggacacaggg aagcccgaag gggcgccttg gccaggtctg ccatctcctc
     4681 cagcgaggct ctggccagca ctgggtgaga gtggggaggg ggcattggcc tttgcagcac
     4741 agtaaaacat ggtccagaca acctgtggcc ccggcctcat gagcaccccc tgcacaggcc
     4801 cggcccaagc caggcgctag aagggctggt tgtggagtgc ttatccttga caggtatggg
     4861 gccaggtgag ggcaggggac aaggtgcagc tgaggccgag cccaactagg tcctgggcac
     4921 ccctgcaggt gggagtggtc cttgtcctcc tggtatccag cagacacccc cctctcccca
     4981 ccagccccat tctcaggtcc tttcctcttt gtcaccaaca ccaagaatct gtccagggtt
     5041 cttggcttat cttttatctc ttttcactcc tagagaggaa ttgcaattga ctcagaatga
     5101 cacattttgg caccacgtgt gtagaaagcc cccactgtta gatgatagcc tcgtgaaatt
     5161 catgtttctg tattctccta tttcttttca aaaactaatt ttttttttag tgtaataaat
     5221 cctaagaggg aactgattta agaaacaagg ccgccaaaca aaggcagcag ttccgactcc
     5281 agcagctggg aaaggaagga aagtgacccc actttcactc ctgcacagcc cactggttac
     5341 caaaaccacc gtgcaagtcg ggatgacagc agggacttct ggccaggtgg gaaaggtgcc
     5401 tggaagcggg atgcgcctgt gcgtctcttg gccatgatgt tcttgtgggc atgttattct
     5461 tggtgctgcc tggggtgttg ctgagcggac aggctctcca gctggagtcc atggagaggc
     5521 cagaggctgg cggccctgcc tgggccttcg gagcctcctg cctgcaccct ccacctcttc
     5581 taaaccatga tgtggcacat tttggtgtta ataaaacaca acacacaaag ta
//
